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Autosomal Recessive Congenital Cerebellar Ataxia

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Autosomal Recessive Congenital Cerebellar Ataxia

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MalaCards integrated aliases for Autosomal Recessive Congenital Cerebellar Ataxia:

Name: Autosomal Recessive Congenital Cerebellar Ataxia 58

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Neuronal diseases Eye diseases
See all MalaCards categories (disease lists)
Orphanet: 58  
Rare neurological diseases


External Ids:

Orphanet 58 ORPHA98095
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Summaries for Autosomal Recessive Congenital Cerebellar Ataxia

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MalaCards based summary: Autosomal Recessive Congenital Cerebellar Ataxia is related to spinocerebellar ataxia, autosomal recessive 13 and spinocerebellar ataxia, autosomal recessive 18. An important gene associated with Autosomal Recessive Congenital Cerebellar Ataxia is ATP8A2 (ATPase Phospholipid Transporting 8A2).
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Related Diseases for Autosomal Recessive Congenital Cerebellar Ataxia

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Diseases in the Autosomal Dominant Cerebellar Ataxia family:

Autosomal Recessive Cerebellar Ataxia Cerebellar Ataxia Type 42
Cerebellar Ataxia Type 47 Cerebellar Ataxia Type 41
Cerebellar Ataxia Type 43 Cerebellar Ataxia Type 48
Cerebellar Ataxia Type 9 Congenital Cerebellar Ataxia Due to Rnu12 Mutation
Autosomal Recessive Cerebellar Ataxia Due to a Dna Repair Defect Autosomal Recessive Congenital Cerebellar Ataxia
Autosomal Dominant Cerebellar Ataxia Type I Autosomal Dominant Cerebellar Ataxia Type Iii
Autosomal Dominant Cerebellar Ataxia Type Iv

Diseases related to Autosomal Recessive Congenital Cerebellar Ataxia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia, autosomal recessive 13 11.5
2 spinocerebellar ataxia, autosomal recessive 18 11.5
3 joubert syndrome 1 11.2
4 cerebellar ataxia, cayman type 11.2
5 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 11.2
6 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 11.2
7 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 11.2
8 aceruloplasminemia 10.3
9 galloway-mowat syndrome 1 10.1
10 3-methylglutaconic aciduria, type iii 10.1
11 spinocerebellar ataxia, autosomal recessive 28 10.1
12 hereditary ataxia 10.1
13 cerebellar disease 10.1
14 cerebellar dysfunction with variable cognitive and behavioral abnormalities 9.7 WDR81 CA8
15 tukel syndrome 9.6 CA8 ATP8A2
16 barber-say syndrome 9.6 CA8 ATP8A2
17 cenani-lenz syndactyly syndrome 9.5 CA8 ATP8A2
18 gillespie syndrome 9.5 WDR81 CA8
19 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 9.4 WDR81 CA8 ATP8A2

Graphical network of the top 20 diseases related to Autosomal Recessive Congenital Cerebellar Ataxia:



Diseases related to Autosomal Recessive Congenital Cerebellar Ataxia
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Symptoms & Phenotypes for Autosomal Recessive Congenital Cerebellar Ataxia

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Drugs & Therapeutics for Autosomal Recessive Congenital Cerebellar Ataxia

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Autosomal Recessive Congenital Cerebellar Ataxia

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Genetic Tests for Autosomal Recessive Congenital Cerebellar Ataxia

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Anatomical Context for Autosomal Recessive Congenital Cerebellar Ataxia

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Publications for Autosomal Recessive Congenital Cerebellar Ataxia

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Articles related to Autosomal Recessive Congenital Cerebellar Ataxia:

# Title Authors PMID Year
1
Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia. 62
31168944 2019
2
Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1. 62
22901947 2012
3
CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592. 62
20531441 2010
4
Nonprogressive autosomal recessive ataxia maps to chromosome 9q34-9qter in a large consanguineous Lebanese family. 62
11506409 2001
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Variations for Autosomal Recessive Congenital Cerebellar Ataxia

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Expression for Autosomal Recessive Congenital Cerebellar Ataxia

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Search GEO for disease gene expression data for Autosomal Recessive Congenital Cerebellar Ataxia.
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Pathways for Autosomal Recessive Congenital Cerebellar Ataxia

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GO Terms for Autosomal Recessive Congenital Cerebellar Ataxia

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Sources for Autosomal Recessive Congenital Cerebellar Ataxia

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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